Canonical Allele Identifier: CA573294071
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2051836
ClinVar RCV Id: RCV002927557
dbSNP Id: rs753247631
gnomAD v2: 7-19156680-C-CGCCCGCGCCGCCGCCGCCGCCACA
gnomAD v3: 7-19117057-C-CGCCCGCGCCGCCGCCGCCGCCACA
gnomAD v4: 7-19117057-C-CGCCCGCGCCGCCGCCGCCGCCACA
MyVariant Identifiers: chr7:g.19156704_19156705insGCCCGCGCCGCCGCCGCCGCCACA (hg19) chr7:g.19117081_19117082insGCCCGCGCCGCCGCCGCCGCCACA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117064_19117087dup , CM000669.2:g.19117064_19117087dup GRCh38
NC_000007.13:g.19156687_19156710dup , CM000669.1:g.19156687_19156710dup GRCh37
NC_000007.12:g.19123212_19123235dup NCBI36
NG_008114.1:g.5592_5615dup
NG_008114.2:g.5592_5615dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.241_264dup MANE Select ENSP00000242261.5:p.Gly88_Gly89insCysGlyGlyGlyGlyGlyAlaGly
ENST00000242261.5:c.241_264dup ENSP00000242261.5:p.Gly88_Gly89insCysGlyGlyGlyGlyGlyAlaGly
ENST00000354571.5:c.38_61dup
NM_000474.3:c.241_264dup NP_000465.1:p.Gly88_Gly89insCysGlyGlyGlyGlyGlyAlaGly
XM_011515496.1:c.241_264dup XP_011513798.1:p.Gly88_Gly89insCysGlyGlyGlyGlyGlyAlaGly
NR_149001.1:n.592_615dup
NM_000474.4:c.241_264dup MANE Select NP_000465.1:p.Gly88_Gly89insCysGlyGlyGlyGlyGlyAlaGly
NR_149001.2:n.556_579dup
Search 100 bp 5'
Search 100 bp 3'